G50E (p.Gly50Glu) variant of IL7R (P16871)
G50E (p.Gly50Glu) in IL7R (P16871) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
G50E (p.Gly50Glu) variant details
- p.Gly50Glu
- cosmic curated COSV10814
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.486
- REVEL 0.45
- CADD 23.40
- PolyPhen-2 0.95
- SIFT 0.16
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available